Inherited immune disorders
XIAP deficiency (XLP2)
XIAP deficiency is an X-linked disorder of immune regulation, historically called XLP2. It can cause HLH, recurrent inflammation and inflammatory bowel disease, including illness that is not triggered by Epstein–Barr virus.
Other names and abbreviations
XLP2 · XLP-2 · BIRC4 deficiency · XIAP deficiency · X-linked lymphoproliferative syndrome type 2
Where transplant fits
Allogeneic transplantation can treat serious immune and inflammatory disease. Appropriate related or unrelated donors may be used. Conditioning and disease control are especially important because this condition can confer substantial transplant toxicity.
Treatment depends on the exact diagnosis, disease stage, prior treatment and the person’s health. These categories are not estimates of donor demand.
Treatment at a glance
- Who it affects
- Usually affects males, with presentation ranging from early life to adulthood.
- Other treatment options
- HLH-directed treatment, bowel-disease treatment and infection care address active illness and may be needed before definitive treatment.
- Cells used for transplantation
- When transplantation is appropriate, the graft contains blood-forming stem cells from a suitable donor. Bone marrow, peripheral blood or cord blood may be selected according to the condition and transplant protocol.
Why the details matter
XIAP deficiency is not simply another form of EBV-related lymphoma susceptibility. Historical high-intensity transplant outcomes should not be assumed to describe every modern regimen.
Questions to bring to your care team
What is the exact diagnosis or subtype? What is the goal of each treatment option? If transplant is being considered, why does it fit this situation, which cells would be used and what are the alternatives?
Sources and further reading
- X-Linked Lymphoproliferative Disease
GeneReviews, University of Washington / NCBI Bookshelf · Accessed 2026-09-05 - Guidelines for hematopoietic stem cell transplantation for inborn errors of immunity
EBMT / ESID Inborn Errors Working Party · 2021
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